%0 Conference Paper
%A Mirza, Saira S
%A Pasternak, Maurice
%A Paterson, Andrew D
%A Tartaglia, Carmela
%A Black, Sandra E
%A Mitchell, Sara
%A Freedman, Morris
%A Tang-Wai, David F
%A Rogaeva, Ekaterina
%A Cash, David M
%A Bocchetta, Martina
%A van Swieten, John
%A Laforce, Robert
%A Tagliavini, Fabrizio
%A Borroni, Barbara
%A Galimberti, Daniela
%A Rowe, James B
%A Graff, Caroline
%A Finger, Elizabeth
%A Sorbi, Sandro
%A Mendonca, Alexandre
%A Butler, Christopher R
%A Gerhard, Alexander
%A Sánchez-Valle, Raquel
%A Moreno, Fermin
%A Synofzik, Matthis
%A Vandenberghe, Rik
%A Ducharme, Simon
%A Levin, Johannes
%A Otto, Markus
%A Santana, Isabel
%A Rohrer, Jonathan D
%A Masellis, Mario
%T Rare genetic variants influence regional cortical and subcortical grey matter volumes in genetic frontotemporal dementia: A GENFI Study
%J Alzheimer's and dementia
%V 21
%N S2
%@ 1552-5260
%M DZNE-2026-00052
%P e106121
%D 2025
%X There is substantial heterogeneity in clinical presentation of genetic Frontotemporal Dementia (FTD), even within the same family. This suggests that additional heritability may exist and contribute to this variable presentation. We examined whether gene-based aggregate burden of genome-wide rare variants (minor allele frequency [MAF]: ≤1
%B Alzheimer’s Association International Conference
%C 27 Jul 2025 - 31 Jul 2025, Toronto (Canada)
Y2 27 Jul 2025 - 31 Jul 2025
M2 Toronto, Canada
%K Humans
%K Frontotemporal Dementia: genetics
%K Frontotemporal Dementia: pathology
%K Frontotemporal Dementia: diagnostic imaging
%K Male
%K Female
%K Magnetic Resonance Imaging
%K Middle Aged
%K Gray Matter: pathology
%K Gray Matter: diagnostic imaging
%K tau Proteins: genetics
%K Mutation: genetics
%K C9orf72 Protein: genetics
%K Biomarkers
%K Progranulins: genetics
%K Brain: pathology
%K Brain: diagnostic imaging
%K Aged
%K Genome-Wide Association Study
%K Genotype
%K tau Proteins (NLM Chemicals)
%K C9orf72 Protein (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%K Progranulins (NLM Chemicals)
%K MAPT protein, human (NLM Chemicals)
%K C9orf72 protein, human (NLM Chemicals)
%K GRN protein, human (NLM Chemicals)
%F PUB:(DE-HGF)1 ; PUB:(DE-HGF)16
%9 AbstractJournal Article
%$ pmid:41505495
%R 10.1002/alz70856_106121
%U https://pub.dzne.de/record/283156